SUMMARY
Introduction: Most abdominal aortic aneurysms (AAA) are considered to be a polygenic disease arising from the interaction of several genes, gene polymorphisms and concomitant epigenetic factors. The aim of our study was to investigate the association between the rs7635818 polymorphism located near the contactin-3 coding gene and AAA in the Slovak population.

Materials and methods: A total number 329 patients (166 patients with AAA and 163 control patients without AAA) participated in a cross-sectional study conducted from August 2016 to March 2020. Antero-posterior aortic diameter was determined by duplex ultrasonography, AAA was defined as subrenal aortic dilatation  30 mm. Real-time polymerase chain reaction and subsequent high-resolution melting analysis in presence of unlabelled probe was used for genotyping of DNA samples. Adjustments including age, smoking, diabetes mellitus, arterial hypertension, sex, creatinine, and body mass index (BMI) were used in the multivariate analysis.
Results: Homozygotes CC had almost 80% higher risk of AAA compared to G-allele carriers (GC/GG) (OR 1.79; p = 0.047). Compared to GG homozygotes, the risk of AAA in CC homozygotes was 2.23-times higher (p = 0.020). The presence of the C-allele of the rs7635818 polymorphism was associated with an almost 50 % higher probability of AAA (OR 1.49;
p = 0.020). The diameter of the abdominal aorta in CC homozygotes was 7.66 mm greater compared to GG homozygotes (p = 0.022) and 5.88 mm greater compared to G-allele carriers (GC/GG) (p = 0.04 ) in univariate analysis.
Conclusion: Carrying the C-allele of the polymorphism rs7635818 located on the short arm of chromosome 3 near the contactin-3 gene is associated with a higher probability of AAA in the Slovak population.
Key words: abdominal aortic aneurysm, polymorphism, contactin-3.
Lek Obz, 2021, 70 (7 – 8): 252 – 256

Matej MOŠČOVIČ 1, Viera HABALOVÁ 2, Martin KOŠČO 1, Jozef ŽIDZIK 2, Ľudmila FARKAŠOVÁ 1

1 Klinika angiológie, LF UPJŠ, Východoslovenský ústav srdcových a cievnych chorôb, a. s., Košice, prednostka doc. MUDr. E. Szabóová, PhD.
2 Ústav lekárskej biológie, LF UPJŠ, Košice, prednosta doc. RNDr. P. Solár, PhD.

Cite:
MOŠČOVIČ M., HABALOVÁ V., KOŠČO M., ŽIDZIK J., FARKAŠOVÁ Ľ.:  An association between gene variant located near gene coding contactin-3 and abdominal aortic aneurysm. Lek Obz, 2021, 70 (7 – 8): 252 – 256